the structures of ANK (zeige ANKH Antikörper) repeats in complex with an inhibitory segment from the C-terminal regulatory domain and with a sodium channel Nav1.2 (zeige SCN2A Antikörper) peptide, are reported.

The giant exon of AnkG is required for assembly of the AIS (zeige AR Antikörper) and nodes of Ranvier and was a transformative innovation in evolution of the vertebrate nervous system that now is a potential target in neurodevelopmental disorders.

In embryonic mouse axons, AnkG is expressed at the beginning of axonogenesis at E9.5 and initially distributed homogeneously along the entire growing axon. From E11.5 the protein progressively becomes restricted to the proximal axon.

This study identified a SNP in ANK3 with a strong protective effect for Bipolar Disorder and Schizophrenia.

The haplotype analysis results suggest that ANK3 variants rs1938526 and rs10994336 may confer susceptibility for BD in the Korean population. Association analysis revealed a probable genetic difference between Korean and Caucasian populations in the degree of ANK3 involvement in BD pathogenesis.

The ankyrin 3 genotype may be associated with pathogenesis of age-related neurodegeneration, and, in part, of bipolar disorder.

ANK3 bipolar-risk polymorphisms are associated with hyperactivation in the ventral anterior cingulate cortex in bipolar disorder.

Ankyrin G (ANK3) Antigen-Profil

Beschreibung des Gens

Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats\; a central region with a highly conserved spectrin binding domain\; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.